Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.050 0.800 5 2005 2009
dbSNP: rs1871054
rs1871054
ADAM12
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.040 0.750 4 2009 2017
dbSNP: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.030 0.333 3 2008 2018
dbSNP: rs3740199
rs3740199
ADAM12
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.030 1.000 3 2009 2017
dbSNP: rs8044769
rs8044769
FTO
6 0.851 0.200 16 53805223 intron variant T/A;C;G snv 0.030 0.667 3 2014 2018
dbSNP: rs12982744
rs12982744
DOT1L
4 0.925 0.040 19 2177194 intron variant C/A;G;T snv 0.810 1.000 2 2012 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2000 2015
dbSNP: rs2820436
rs2820436
LYPLAL1-AS1
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs10654220
rs10654220
MPHOSPH9
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2019 2019
dbSNP: rs1126464
rs1126464
DPEP1
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 1 2019 2019
dbSNP: rs11409738
rs11409738
DYNC1I1
1 1.000 0.040 7 96090522 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs11718863
rs11718863
COL6A4P1
3 0.882 0.080 3 15175196 non coding transcript exon variant A/G;T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121913474
rs121913474
FGFR2
9 0.790 0.200 10 121515260 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121918505
rs121918505
FGFR2
5 0.851 0.080 10 121520119 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1278279
rs1278279
ADAM12
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1355782
rs1355782
CPNE4
1 1.000 0.040 3 131768822 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1404866
rs1404866
LOC102724680
1 1.000 0.040 12 84970700 intergenic variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1456315
rs1456315
PCAT1 ; PRNCR1 ; CASC19
9 0.790 0.200 8 127091692 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1560707
rs1560707
SLC44A2
1 1.000 0.040 19 10640062 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1676486
rs1676486
COL11A1
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1799986
rs1799986
LRP1
4 0.851 0.120 12 57141483 missense variant C/A;T snv 8.0E-06; 0.13 0.010 1.000 1 2019 2019